ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.950del (p.Val317fs)

dbSNP: rs2125503248
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002455 SCV002237004 pathogenic Biotinidase deficiency 2021-03-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the BTD protein. Other variant(s) that disrupt this region (p.Thr351Lysfs*12) have been determined to be pathogenic (PMID: 12359137, 15776412, 20083419). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in individual(s) with profound biotinidase deficiency (PMID: 22698809). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val337Glyfs*26) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 207 amino acid(s) of the BTD protein.

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